MCID: CHR551
MIFTS: 9

Charcot-Marie-Tooth Disease Type 2o

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2o

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2o:

Name: Charcot-Marie-Tooth Disease Type 2o 53
Charcot-Marie-Tooth Disease, Axonal, Type 2o 53 72
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o 53
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o 53
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o 53
Cmt2o 53

Classifications:



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UMLS 72 C3280220

Summaries for Charcot-Marie-Tooth Disease Type 2o

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2o, also known as charcot-marie-tooth disease, axonal, type 2o, is related to charcot-marie-tooth disease, axonal, type 2o.

Related Diseases for Charcot-Marie-Tooth Disease Type 2o

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease Type 2o via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2o 12.0

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2o

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2o

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2o

Genetic Tests for Charcot-Marie-Tooth Disease Type 2o

Anatomical Context for Charcot-Marie-Tooth Disease Type 2o

Publications for Charcot-Marie-Tooth Disease Type 2o

Articles related to Charcot-Marie-Tooth Disease Type 2o:

# Title Authors PMID Year
1
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. 38
26100331 2015
2
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. 38
22459677 2012

Variations for Charcot-Marie-Tooth Disease Type 2o

Expression for Charcot-Marie-Tooth Disease Type 2o

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2o.

Pathways for Charcot-Marie-Tooth Disease Type 2o

GO Terms for Charcot-Marie-Tooth Disease Type 2o

Sources for Charcot-Marie-Tooth Disease Type 2o

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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